SLCO1B1 Gene: Organic Anion Transporting Polypeptide 1B1 (OATP1B1)
Key hepatic transporter in statin pharmacokinetics and drug-induced myopathy risk
Gene Information Card
| Symbol | SLCO1B1 |
|---|---|
| Full Name | Solute carrier organic anion transporter family member 1B1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p12.1 |
| NCBI Gene ID | 10599 ncbi.nlm.nih.gov/gene/10599 |
| Ensembl ID | ENSG00000140382 |
| UniProt ID | Q9Y6L6 |
| OMIM ID | 604843 |
| HGNC ID | 10959 |
| Aliases | OATP1B1, OATP-C, LST-1, SLC21A6 |
Description
The SLCO1B1 gene encodes the organic anion transporting polypeptide 1B1 (OATP1B1), a sodium-independent transmembrane transporter primarily expressed on the basolateral membrane of hepatocytes. OATP1B1 mediates the hepatic uptake of numerous endogenous compounds (e.g., bilirubin, bile acids) and xenobiotics, including statins, antibiotics, and antivirals. Genetic variants, particularly c.521T>C (p.Val174Ala), reduce transport activity, leading to increased plasma concentrations of substrate drugs and elevated risk of adverse effects such as statin-induced myopathy. SLCO1B1 is a critical pharmacogene in precision medicine.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Statin-induced myopathy | Reduced OATP1B1 function due to c.521T>C (p.Val174Ala) decreases hepatic uptake of statins, increasing systemic exposure and muscle toxicity risk. | Strong evidence from genome-wide association studies (GWAS) and clinical guidelines (CPIC). |
| Rotor syndrome | Biallelic loss-of-function variants in SLCO1B1 and SLCO1B3 cause hyperbilirubinemia due to impaired hepatic bilirubin uptake. | Case reports and functional studies. |
| Drug-induced liver injury (DILI) | Altered OATP1B1 activity may influence hepatic accumulation of hepatotoxic drugs, though evidence is emerging. | Limited clinical evidence; research ongoing. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | High (nTPM ~ 100) | Predominant expression on hepatocyte basolateral membrane. |
| Kidney | Low (nTPM ~ 1) | Minimal expression; not primary site. |
| Small intestine | Low (nTPM ~ 0.5) | Negligible expression. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | High | Hepatocellular carcinoma cell line; used for OATP1B1 functional studies. |
| Caco-2 | Low | Intestinal epithelial cells; low endogenous expression. |
| HEK293 | Low | Often used for recombinant overexpression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.521T>C (p.Val174Ala) | SNP (rs4149056) | ~15-20% in Europeans, higher in East Asians | Reduced transport activity; increased statin plasma levels and myopathy risk. |
| c.388A>G (p.Asn130Asp) | SNP (rs2306283) | ~30-40% in various populations | May alter substrate specificity; often in linkage disequilibrium with c.521T>C. |
| c.463C>A (p.Pro155Thr) | SNP (rs11045819) | ~5-10% in Africans | Reduced function; associated with altered methotrexate clearance. |
Mutation functional classification
Loss of Function (LOF)
c.521T>C (p.Val174Ala) is the most common loss-of-function variant, reducing OATP1B1 cell surface expression and transport activity.
Gain of Function (GOF)
No well-characterized gain-of-function variants reported; some haplotypes may show increased activity for certain substrates, but evidence is limited.
Dominant Negative (DN)
Not applicable; SLCO1B1 functions as a monomer, and loss-of-function is recessive at the molecular level.
View complete mutation data：
Gene Ontology (GO)
| • organic anion transmembrane transporter activity (GO:0008514) | • symporter activity (GO:0015293) |
| • integral component of membrane (GO:0016021) | • bile acid transport (GO:0015721) |
| • transmembrane transport (GO:0055085) |
Pathways
• Hepatic drug clearance (Phase 0 uptake)
• Bilirubin metabolism and transport
• Statin pharmacokinetics pathway
Protein Summary
OATP1B1 is a 691-amino acid glycoprotein with 12 transmembrane domains, localized to the basolateral membrane of hepatocytes. It functions as an organic anion exchanger, coupling the uptake of substrates with efflux of intracellular anions (e.g., glutathione, bicarbonate). The protein plays a pivotal role in the first-pass hepatic clearance of many drugs, and its activity is modulated by genetic polymorphisms, drug interactions, and disease states.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLCO1B1 Knockout HEK293 Cell Line | EDJ-KQ2079 | Human | 10599 | Details Get a Quote |
| SLCO1B1 Knockout A-549 Cell Line | EDJ-KQ22162 | Human | 10599 | Details Get a Quote |
| SLCO1B1 Knockout HeLa Cell Line | EDJ-KQ22163 | Human | 10599 | Details Get a Quote |
| SLCO1B1 Knockout HCT 116 Cell Line | EDJ-KQ72380 | Human | 10599 | Details Get a Quote |
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